Variant report

Variant	nsv606282
Chromosome Location	chr7:14542836-14579801
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 476 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:476 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10237790	chr7:14542836-14542837	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs560838996	chr7:14542845-14542846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs10251573	chr7:14542889-14542890	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs546482406	chr7:14542934-14542935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189720956	chr7:14542944-14542945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139637222	chr7:14542991-14542992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs77133914	chr7:14543045-14543046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs74743971	chr7:14543056-14543057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs373070083	chr7:14543058-14543059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs34302167	chr7:14543094-14543095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537165446	chr7:14543139-14543140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs150516845	chr7:14543170-14543171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537530352	chr7:14543190-14543191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557560418	chr7:14543213-14543214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs147009915	chr7:14543255-14543256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567183003	chr7:14543261-14543262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556889972	chr7:14543318-14543319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536985173	chr7:14543329-14543330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs181240480	chr7:14543375-14543376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576834686	chr7:14543403-14543404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs151020913	chr7:14543442-14543443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs372941932	chr7:14543537-14543538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs573530053	chr7:14543539-14543540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545404907	chr7:14543601-14543602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371048660	chr7:14543643-14543644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs140887676	chr7:14543644-14543645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185686065	chr7:14543663-14543664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533299662	chr7:14543763-14543764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190489220	chr7:14543780-14543781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544355110	chr7:14543823-14543824	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs150181238	chr7:14543890-14543891	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs529850651	chr7:14543901-14543902	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs539994723	chr7:14543945-14543946	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs560040134	chr7:14543970-14543971	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs536222383	chr7:14544003-14544004	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs553038086	chr7:14544013-14544014	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs183033655	chr7:14544018-14544019	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs187331743	chr7:14544028-14544029	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs192031060	chr7:14544044-14544045	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs182665897	chr7:14544045-14544046	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs547967100	chr7:14544048-14544049	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs112391867	chr7:14544055-14544056	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs568121351	chr7:14544066-14544067	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs181414161	chr7:14544084-14544085	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs187625667	chr7:14544126-14544127	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs558847056	chr7:14544127-14544128	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs192815492	chr7:14544132-14544133	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs138733618	chr7:14544153-14544154	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs12533779	chr7:14544156-14544157	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs558332273	chr7:14544172-14544173	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Pancreatic cancer	17952125	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21645411	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14542400-14543600	Enhancers	Brain Germinal Matrix	brain
2	chr7:14542400-14544800	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr7:14542400-14545400	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr7:14542400-14545600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr7:14542600-14545000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:14543000-14544200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr7:14543200-14544200	Enhancers	Brain Angular Gyrus	brain
8	chr7:14543200-14544800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:14543400-14543800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr7:14543400-14543800	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr7:14543400-14544200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr7:14543400-14544200	Enhancers	Brain Hippocampus Middle	brain
13	chr7:14543400-14544200	Enhancers	Brain Substantia Nigra	brain
14	chr7:14543400-14544400	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr7:14543400-14544800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:14543600-14544000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr7:14543600-14544000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:14543600-14544200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr7:14543600-14544200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:14543600-14544400	Weak transcription	Brain Germinal Matrix	brain
21	chr7:14543600-14544800	Enhancers	Fetal Heart	heart
22	chr7:14543800-14544200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
23	chr7:14544200-14544600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr7:14544200-14545200	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr7:14544400-14544800	Enhancers	Brain Germinal Matrix	brain
26	chr7:14544600-14544800	Enhancers	NHEK	skin
27	chr7:14544600-14545400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr7:14544600-14545600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:14544600-14548400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr7:14544800-14545600	Weak transcription	NHEK	skin
31	chr7:14544800-14546400	Weak transcription	Fetal Heart	heart
32	chr7:14545200-14545400	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr7:14545400-14546200	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr7:14545400-14547200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr7:14545600-14546200	Enhancers	NHEK	skin
36	chr7:14545600-14547200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr7:14545600-14547200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr7:14545800-14546000	Enhancers	Muscle Satellite Cultured Cells	--
39	chr7:14546200-14546600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr7:14546200-14547200	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr7:14546200-14547200	Weak transcription	NHEK	skin
42	chr7:14546200-14548400	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr7:14546400-14546600	Active TSS	Fetal Heart	heart
44	chr7:14546600-14546800	Flanking Active TSS	Fetal Heart	heart
45	chr7:14546800-14548200	Enhancers	Fetal Heart	heart
46	chr7:14547200-14547400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr7:14547200-14547600	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr7:14547200-14547600	Enhancers	Fetal Brain Male	brain
49	chr7:14547200-14547600	Enhancers	Left Ventricle	heart
50	chr7:14547200-14547800	Enhancers	Liver	Liver

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